Gene Variant Detail

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Gene MAP2K1
Variant I9Sfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MAP2K1 I9Sfs*3 indicates a shift in the reading frame starting at amino acid 9 and terminating 3 residues downstream causing a premature truncation of the 393 amino acid Map2k1 protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), I9Sfs*3 is predicted to lead to a loss of Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 inact mut MAP2K1 I9Sfs*3

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Transcript NM_002755.4
gDNA chr15:g.66387372delA
cDNA c.25delA
Protein p.I9Sfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66387372delA c.25delA p.I9Sfs*3 RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66387372delA c.25delA p.I9Sfs*3 RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66387372delA c.25delA p.I9Sfs*3 RefSeq GRCh38/hg38
XM_017022411 chr15:g.66387371delC c.24delC p.I9Sfs*3 RefSeq GRCh38/hg38
NM_002755 chr15:g.66387371delC c.24delC p.I9Sfs*3 RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66387372delA c.25delA p.I9Sfs*3 RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References